ARSF

arylsulfatase F, the group of Sulfatases

Basic information

Region (hg38): X:3041471-3112727

Links

ENSG00000062096 ∙ NCBI:416 ∙ OMIM:300003 ∙ HGNC:721 ∙ Uniprot:P54793 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARSF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARSF gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	1	6
missense			42	3		45
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding					1	1
Total	0	0	42	9	2

Variants in ARSF

This is a list of pathogenic ClinVar variants found in the ARSF region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-3072016-T-G		ARSF-related disorder	Uncertain significance (May 29, 2024)
X-3072032-C-G			Benign (Jul 26, 2017)
X-3072095-C-G		not specified	Uncertain significance (Aug 08, 2023)
X-3072138-A-G		not specified	Uncertain significance (Dec 10, 2024)
X-3072159-G-A		not specified	Uncertain significance (Sep 07, 2022)
X-3072182-C-T			Likely benign (Feb 01, 2023)
X-3076551-G-A		ARSF-related disorder	Likely benign (Jun 27, 2019)
X-3076561-G-C		not specified	Uncertain significance (Aug 02, 2021)
X-3076577-A-G		not specified	Uncertain significance (Feb 15, 2023)
X-3076622-G-T		not specified	Uncertain significance (Jan 23, 2025)
X-3076657-C-A		not specified	Uncertain significance (Sep 20, 2024)
X-3080938-C-A		not specified	Uncertain significance (Jun 03, 2024)
X-3080941-G-T		not specified	Uncertain significance (Oct 12, 2022)
X-3080945-G-C		ARSF-related disorder	Uncertain significance (Aug 01, 2024)
X-3080951-C-G		not specified	Uncertain significance (Feb 19, 2025)
X-3080965-A-G		not specified	Uncertain significance (Jun 07, 2024)
X-3080968-CT-C			Likely benign (Jan 01, 2023)
X-3081004-G-A		not specified	Uncertain significance (Mar 08, 2024)
X-3081011-T-C		not specified	Uncertain significance (Oct 29, 2024)
X-3084360-C-T		not specified	Uncertain significance (Feb 19, 2025)
X-3084371-C-T		ARSF-related disorder	Likely benign (Apr 06, 2022)
X-3084372-G-A		not specified	Uncertain significance (Nov 26, 2024)
X-3084420-T-C		not specified	Uncertain significance (Sep 12, 2023)
X-3084436-C-T			Likely benign (Feb 01, 2023)
X-3084444-T-C		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARSF	protein_coding	protein_coding	ENST00000381127	10	71256

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.11e-14	0.0107	125657	24	65	125746	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.387	260	243	1.07	0.0000193	3845
Missense in Polyphen		103	86.307	1.1934		1402
Synonymous	-2.32	133	103	1.29	0.00000906	1173
Loss of Function	-0.275	20	18.7	1.07	0.00000163	260

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000738	0.000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000514	0.000272
Finnish	0.0000627	0.0000462
European (Non-Finnish)	0.000775	0.000554
Middle Eastern	0.000514	0.000272
South Asian	0.000244	0.000131
Other	0.00121	0.000652

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Post-translational protein modification;Metabolism of proteins;The activation of arylsulfatases;Gamma carboxylation, hypusine formation and arylsulfatase activation;Metabolism;Glycosphingolipid metabolism;Sphingolipid metabolism (Consensus)

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.154
• rvis_EVS: 0.36
• rvis_percentile_EVS: 74.66

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.123
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000365

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Cellular component: endoplasmic reticulum lumen;extracellular exosome
• Molecular function: arylsulfatase activity;metal ion binding